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There are many challenges that exist when it comes to advancing knowledge of and treatment options for rare diseases. Pharmaceutical and biotechnology companies are often reluctant to fund rare diseases research because of the perceived poor economics associated with the small target populations. Even for those rare conditions where funding is plentiful and manufacturers of therapeutics are engaged, methodological and data constraints limit the ability to generate evidence on patient health outcomes. Contributing to the challenges are the small number of eligible participants for a given research study and the geographic dispersion of patients. As a result, relatively little is known about the clinical course of many rare diseases and only five percent of rare diseases have FDA approved therapies.

Contrary to some people’s thinking, we believe that there is considerable research interest, and if more money were to be made available for research on rare diseases, more researchers would be willing to devote their lives to that research.

For those who do devote their time and efforts to researching rare diseases, we created 123Genetix to help empower you and advance your efforts. We have developed a growing library of computational models of rare diseases around the globe. These models are easily customizable by the investigator and have a number of important applications, including:

Develop new disease hypotheses;

Design and run experimental simulations to test those hypotheses;

Write better grants; and,

Identify potential disease-specific biomarkers.

As part of the ongoing development and validation of this new technology we intend to make these models available free of charge to select not-for-profit researchers. In the meantime, we need your help in raising awareness of our organization and our technology in advance of our upcoming crowdfunding campaign in early 2018.

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Together we can help ensure that rare does not mean forgotten.

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